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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10991

FusionGeneSummary for EEF2_CLCN3

check button Fusion gene summary
Fusion gene informationFusion gene name: EEF2_CLCN3
Fusion gene ID: 10991
HgeneTgene
Gene symbol

EEF2

CLCN3

Gene ID

1938

1182

Gene nameeukaryotic translation elongation factor 2chloride voltage-gated channel 3
SynonymsEEF-2|EF-2|EF2|SCA26CLC3|ClC-3
Cytomap

19p13.3

4q33

Type of geneprotein-codingprotein-coding
Descriptionelongation factor 2polypeptidyl-tRNA translocaseH(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3
Modification date2018052320180523
UniProtAcc

P13639

P51790

Ensembl transtripts involved in fusion geneENST00000309311, ENST00000600720, 
ENST00000513761, ENST00000347613, 
ENST00000360642, ENST00000504131, 
ENST00000506924, 
Fusion gene scores* DoF score30 X 23 X 17=1173036 X 4 X 19=2736
# samples 5039
** MAII scorelog2(50/11730*10)=-4.55213110825378
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(39/2736*10)=-2.81052220113629
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EEF2 [Title/Abstract] AND CLCN3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCLCN3

GO:1902476

chloride transmembrane transport

11274166


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-CF-A27C-01AEEF2chr19

3976055

-CLCN3chr4

170623929

+
TCGARVHNSCTCGA-BB-4223-01AEEF2chr19

3976055

-CLCN3chr4

170623929

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000309311ENST00000513761EEF2chr19

3976055

-CLCN3chr4

170623929

+
5CDS-intronENST00000309311ENST00000347613EEF2chr19

3976055

-CLCN3chr4

170623929

+
5CDS-intronENST00000309311ENST00000360642EEF2chr19

3976055

-CLCN3chr4

170623929

+
5CDS-intronENST00000309311ENST00000504131EEF2chr19

3976055

-CLCN3chr4

170623929

+
5CDS-intronENST00000309311ENST00000506924EEF2chr19

3976055

-CLCN3chr4

170623929

+
intron-intronENST00000600720ENST00000513761EEF2chr19

3976055

-CLCN3chr4

170623929

+
intron-intronENST00000600720ENST00000347613EEF2chr19

3976055

-CLCN3chr4

170623929

+
intron-intronENST00000600720ENST00000360642EEF2chr19

3976055

-CLCN3chr4

170623929

+
intron-intronENST00000600720ENST00000504131EEF2chr19

3976055

-CLCN3chr4

170623929

+
intron-intronENST00000600720ENST00000506924EEF2chr19

3976055

-CLCN3chr4

170623929

+

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FusionProtFeatures for EEF2_CLCN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EEF2

P13639

CLCN3

P51790

Catalyzes the GTP-dependent ribosomal translocation stepduring translation elongation. During this step, the ribosomechanges from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-boundpeptidyl-tRNA and P-site-bound deacylated tRNA move to the P and Esites, respectively. Catalyzes the coordinated movement of the twotRNA molecules, the mRNA and conformational changes in theribosome. Mediates the exchange of chloride ions against protons.Functions as antiporter and contributes to the acidification ofthe endosome and synaptic vesicle lumen, and may thereby affectvesicle trafficking and exocytosis. May play an important role inneuronal cell function through regulation of membrane excitabilityby protein kinase C. It could help neuronal cells to establishshort-term memory. {ECO:0000269|PubMed:11967229}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for EEF2_CLCN3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EEF2_CLCN3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
EEF2TP53, MLLT3, POU5F1, UCHL5, PPP2R1A, PPP2R1B, NOP56, DISC1, PSMA3, NDRG1, HDGF, ARRB2, ISG15, FBXO25, EEF2K, CUL3, CUL4B, CUL5, CDK2, CUL1, COPS5, COPS6, CAND1, GRK5, RAD23A, RPL5, RPS6, RPS3A, RPL7, RPS4X, RPL7A, EEF1A1, RPS16, RPS23, RPL31, RPS24, RPL12, RPL4, RPS15A, RPL10A, RPL14, RPL6, RPL18, RPS7, RPL21, RPL11, RPL23, RPS2, RPS5, RPS19, TARS, MRPS5, HSPD1, HSPA8, EIF4A1, PABPC1, FARSA, RPLP0P6, XRCC6, RPL10L, FLOT2, RRM1, HNRNPA0, EPHA2, ERLIN2, RBM4, HNRNPH1, RHOT2, HNRNPDL, HNRNPL, DDX5, ATP6V1H, NUP62, HNRNPA3, UPF1, SMURF1, CCT2, HSP90AA1, HSP90AB1, FN1, VCAM1, ATF2, MLH1, EEF2KMT, UBL4A, ITGA4, NPM1, SMG1, ADRB2, HNRNPD, MAPK14, HIPK4, CDK18, CDK20, TARDBP, CDKN2A, BZW1, CASP7, CKB, CAPN1, FTO, GSR, PGD, TYMP, EIF4H, GINS2, MAT2A, PAK2, PFAS, RPS6KA1, XPO1, YWHAQ, SHFM1, LGR4, HUWE1, FUS, MDM2, RNF2, SIRT6, ARAF, BLK, BUB1B, CASK, CDK13, DAPK1, IRAK1, LIMK2, WEE1, ESR1, HNRNPA1, UNK, EP300, CALR, ABCC3, ABCD3, AHNAK, ARPC2, ATIC, ATP1B3, AURKA, CASP3, CSE1L, DPH1, DPH2, EEF1A2, ENO1, GSPT1, HSD17B10, NDUFV1, NOTCH2, PGK1, TAGLN, TAGLN2, TOMM40, TXN, HCFC1, HSD17B4, IPO4, ISYNA1, OPA1, RDX, TUBB, NTRK1, PTEN, PPME1, GAN, CRY1, CRY2, MCM2, SENP3, U2AF2, NFATC2, CDC73, WWP2, ZNF746, CDH1, FBXO9, DEFA1, SLC25A48, CYLD, DLD, DLST, DNM1L, PARK7, SDHA, SOAT1, SOD1, VDAC1, TRIM25, BRCA1, HDAC6CLCN3CLCN3, SLC9A3R1, PDZK1, GOPC, CFTR, LGALS3, LGALS8, LGALS9, LYPD3, HSPB1, TMEM9B, GGA1, TPCN2, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for EEF2_CLCN3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EEF2_CLCN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEEF2C0001418Adenocarcinoma1CTD_human
HgeneEEF2C0007134Renal Cell Carcinoma1CTD_human
HgeneEEF2C0024121Lung Neoplasms1CTD_human
HgeneEEF2C0027626Neoplasm Invasiveness1CTD_human
HgeneEEF2C0027627Neoplasm Metastasis1CTD_human
HgeneEEF2C0029408Degenerative polyarthritis1CTD_human
HgeneEEF2C1458155Mammary Neoplasms1CTD_human
HgeneEEF2C1836395SPINOCEREBELLAR ATAXIA 261ORPHANET;UNIPROT
TgeneCLCN3C0017638Glioma1CTD_human
TgeneCLCN3C0038356Stomach Neoplasms1CTD_human
TgeneCLCN3C2931822Nasopharyngeal carcinoma1CTD_human